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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Recurrent Respiratory Papillomatosis
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Accession:DOID:9002780 term browser browse the term
Definition:An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction.
Synonyms:exact_synonym: JRRP;   Juvenile laryngeal papilloma;   Juvenile-onset recurrent respiratory papillomatosis;   Laryngeal papilloma, recurrent;   RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL;   Respiratory papillomatosis;   congenital juvenile recurrent respiratory papillomatosis
 primary_id: MESH:C535297
 alt_id: OMIM:618803;   RDO:0000328
For additional species annotation, visit the Alliance of Genome Resources.



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Recurrent Respiratory Papillomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd274 CD274 molecule ISO protein:increased expression: larynx RGD PMID:22322668 RGD:40822813 NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
JBrowse link
G Foxp3 forkhead box P3 susceptibility ISO DNA:SNPs:promoter:rs5902434,rs2232365 (human) RGD PMID:28298239 RGD:38549360 NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
JBrowse link
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Respiratory papillomatosis, juvenile recurrent, congenital OMIM
ClinVar
PMID:17377159 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31484767 NCBI chr10:55,778,560...55,833,639
Ensembl chr10:55,778,560...55,825,180
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:22322668 RGD:40822813 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity ISO DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0602 (human)
DNA:polymorphism: :HLA-DQB1*0602(human)
RGD PMID:15336778 PMID:19861144 RGD:5147657, RGD:36174013 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 severity ISO DNA:polymorphisms:cds:HLA-DRB1*0301, HLA-DRB1*0102 (human) RGD PMID:15336778 RGD:5147657 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Tap1 transporter 1, ATP binding cassette subfamily B member severity ISO DNA:polymorphism:cds:p.D637G(human) RGD PMID:14976605 RGD:5147844 NCBI chr20:4,656,262...4,666,634
Ensembl chr20:4,656,263...4,666,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      respiratory system disease 2941
        Respiratory Tract Infections 527
          Recurrent Respiratory Papillomatosis 7
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Urogenital Diseases 4422
        Female Urogenital Diseases and Pregnancy Complications 2093
          Female Urogenital Diseases 1785
            female reproductive system disease 1781
              uterine disease 482
                Uterine Neoplasms 442
                  Uterine Cervical Neoplasms 221
                    papillomavirus infectious disease 57
                      Recurrent Respiratory Papillomatosis 7
paths to the root